Also known asAAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, TBR-ii, TBRII, TGFR-2, TGFbeta-RII, tbetaR-II
TGFBR2 (Transforming Growth Factor Beta Receptor 2) is a gene that encodes a protein called TGF-beta receptor 2 (TGFBR2). This protein is a member of the TGF-beta receptor family, which are transmembrane receptors that play a critical role in cell growth, differentiation, and apoptosis. When activated by its ligand, TGF-beta, TGFBR2 forms a complex with another receptor, TGFBR1, which then phosphorylates and activates downstream signaling proteins, leading to changes in gene expression and cellular behavior.
Mutations in the TGFBR2 gene have been associated with a number of inherited disorders, including Marfan syndrome, Loeys-Dietz syndrome, and certain types of cancer, such as lung, colon and breast cancer. Marfan syndrome and Loeys-Dietz syndrome are connective tissue disorders that affect the skeleton, heart, blood vessels and eyes, and are caused by mutations in the TGFBR2 gene. In these disorders, the mutations lead to an overactive TGF-beta signaling that causes abnormal development of the cardiovascular and skeletal systems.
In cancer, TGFBR2 mutations are often found in tumors with poor prognosis, particularly in advanced stages and in metastasis, indicating that TGFBR2 mutations likely contribute to the development and progression of cancer.